CLCN7‐related neuropathic infantile osteopetrosis in siblings

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Veröffentlicht in:Pediatrics international 2021-10, Vol.63 (10), p.1251-1252
Hauptverfasser: Tachikawa, Jun, Takahashi, Yuya, Miura, Masaki, Soeno, Yoshiki, Tanaka, Atsushi
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container_issue 10
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container_title Pediatrics international
container_volume 63
creator Tachikawa, Jun
Takahashi, Yuya
Miura, Masaki
Soeno, Yoshiki
Tanaka, Atsushi
description
doi_str_mv 10.1111/ped.14594
format Article
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source MEDLINE; Wiley Online Library Journals Frontfile Complete
subjects autosomal recessive osteopetrosis
Chloride Channels - genetics
CLCN7
Fatal Outcome
Female
hematopoietic stem cell transplantation
Humans
Infant
Infant, Newborn
magnetic resonance imaging
Male
Mutation
neurodegenerative diseases
Osteopetrosis
Osteopetrosis - diagnosis
Osteopetrosis - genetics
Pediatrics
Siblings
title CLCN7‐related neuropathic infantile osteopetrosis in siblings
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